Please use this identifier to cite or link to this item :http://hdl.handle.net/2066/51498

Display more details

Subject:

UMCN 5.1: Genetic defects of metabolism

Organization:

UMCN ExternHuman Genetics

Journal title:

European Journal of Human Genetics

Volume:

vol. 15

Issue:

iss. 7

Page start:

p. 743

Page end:

p. 751

Abstract:

Here, we report a patient with a novel brachydactyly-syndactyly syndrome and a de novo translocation 46,XY,t(4;6)(q12;p23). We mapped the breakpoint and identified genes in the breakpoint region. One of the genes on chromosome 6, the membrane-associated O-acetyl transferase gene 1 (MBOAT1), was disrupted by the breakpoint. This gene consists of 13 exons and encodes a protein of 495 amino acids. MBOAT1 is predicted to be a transmembrane protein and belongs to the superfamily of membrane-bound O-acyltransferases. These proteins transfer organic compounds, usually fatty acids, onto hydroxyl groups of membrane-embedded targets. Identification of the transferred acyl group and the target may reveal the signaling pathways altered in this novel brachydactyly-syndactyly syndrome.